A. Girolami et al., Combined factor V and factor VII deficiency due to an independent segregation of the two defects, CL APPL T-H, 5(2), 1999, pp. 136-138
A patient with combined factor V and factor VII deficiency is described tog
ether with a family study. The propositus appeared to be double heterozygou
s for factor V and factor VII deficiency. Since the patient showed a parall
el decrease of activity and antigen, he appeared to be double heterozygous
for a true deficiency. The patient had inherited the factor V defect from t
he mother and the factor VII defect from the father. The parents of the pro
positus were not consanguineous. Other family members were found to have is
olated factor V or factor VII deficiency. This is the third family so far d
escribed with this peculiar combined defect but the first to be investigate
d by clotting and immunologic assays.